I was also diagnosed in 2012 and has surgery in 2013. I continue on meds and have many health issues still. I haven’t had a full recovery and dramatic weight loss or anything. I’m now starting to regret surgery as it has left me very limited in what I can do. I was far more mobile before. I miss my life. I’ve lost everything since having surgery!

I, too, was diagnosed with a pituitary tumor and subsequently had surgery to remove it. I still struggle day to day with many issues…word finding, comprehension, emotions. I also struggle with finding Cushings disease support groups in our area.

A simple test that measures free cortisol levels in saliva at midnight — called a midnight salivary cortisol test — showed good diagnostic performance for Cushing’s syndrome among a Chinese population, according to a recent study. The test was better than the standard urine free cortisol levels and may be an alternative for people with end-stage kidney disea […]

Your case is every similar to mine. I wasn’t a dancer but I did play multiple sports in high school and played college basketball. I saw doctor Yuen at Swedish as well and many more doctors as well. I have never got my case or my symptoms solved. Over 4 years of doctors and testing. They found I had a pituitary tumor and mildly high cortisol in my 24 hour Ur […]

Thanks for sharing your story. In February it will be 6 years since I’ve had my pituitary surgery. My health is constantly up and down as well. I was just wondering if you’re treated for depression or anxiety at all? Also, have you found any exercises or physical therapy to be helpful?

Jill wrote: 'In December 2004 my dad who had addison's for over 30 years had a triple bypass surgery 6 days before Christmas. The surgery was an amazine success and it was predicted he would be home before Christmas. Day 2 following surgery the hospital neglected to give him his steriods for his Addison's for 22 hours, which they were complete […]

A man with Cushing’s disease — caused by an adrenocorticotrophic hormone (ACTH)-secreting pituitary adenoma — who later developed metastases in the central nervous system without Cushing’s recurrence, was successfully treated over eight years with radiation and chemotherapy, according to a case report.

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In this video exclusive, Hershel Raff, PhD, professor of medicine, surgery and physiology at the Medical College of Wisconsin and scientific director and clinical research supervisor at Aurora St. Luke’s Medical Center, discusses his presentation on the laboratory diagnosis of Cushing’s syndrome.

According to Raff, Cushing’s syndrome is the most enigmatic disease in endocrinology and one of the most difficult to diagnose.

The use of late-night salivary cortisol for diagnosis has recently become popular although the test has been around for many decades. Patients can send samples by mail to have their cortisol measured in a laboratory to determine whether they have Cushing’s. According to Raff, the test is about 95% accurate in making a diagnosis.

Major finding: A morning serum cortisol above 11.1 mcg/dL is a test of adrenal function with 99% sensitivity.

Data source: Review of 3,300 adrenal insufficiency work-ups.

Disclosures: There was no outside funding for the work, and the investigators had no disclosures.

BOSTON – A random morning serum cortisol above 11.1 mcg/dL safely rules out adrenal insufficiency in both inpatients and outpatients, according to a review of 3,300 adrenal insufficiency work-ups at the Edinburgh Centre for Endocrinology and Diabetes.

The finding could help eliminate the cost and hassle of unnecessary adrenocorticotropic hormone (ACTH) stimulation tests; the investigators estimated that the cut point would eliminate almost half of them without any ill effects. “You can be very confident that patients aren’t insufficient if they are above that line,” with more than 99% sensitivity. If they are below it, “they may be normal, and they may be abnormal.” Below 1.8 mcg/dL, adrenal insufficiency is almost certain, but between the cutoffs, ACTH stimulation is necessary, said lead investigator Dr. Scott Mackenzie, a trainee at the center.

In short, “basal serum cortisol as a screening test … offers a convenient and accessible means of identifying patients who require further assessment,” he said at the annual meeting of the Endocrine Society.

Similar cut points have been suggested by previous studies, but the Scottish investigation is the first to validate its findings both inside and outside of the hospital.

The team arrived at the 11.1 mcg/dL morning cortisol cut point by comparing basal cortisol levels and synacthen results in 1,628 outpatients. They predefined a sensitivity of more than 99% for adrenal sufficiency to avoid missing anyone with true disease. The cut point’s predictive power was then validated in 875 outpatients and 797 inpatients. Morning basal cortisol levels proved superior to afternoon levels.

The investigators were thinking about cost-effectiveness, but they also wanted to increase screening. “We may be able to reduce the number of adrenal insufficiency cases we are missing because [primary care is] reluctant to send people to the clinic for synacthen tests” due to the cost and inconvenience. As with many locations in the United States, “our practice is to do [ACTH on] everyone.” If there was “a quick and easy 9 a.m. blood test” instead, it would help, Dr. Mackenzie said.

Adrenal insufficiency was on the differential for a wide variety of reasons, including hypogonadism, pituitary issues, prolactinemia, fatigue, hypoglycemia, postural hypotension, and hyponatremia. Most of the patients were middle aged, and they were about evenly split between men and women.

There was no outside funding for the work, and the investigators had no disclosures.

Mortality in adults with hypopituitarism: A systematic review and meta-analysis

S Jasim, F Alahdab, A Ahmed, S Tamhane, TB Nippoldt, H Murad

Summary: The purpose of this study was to review existing literature on mortality in hypopituitarism and determine possible predictors of this outcome to help create clinical practice guidelines. Premature mortality may be associated with hypopituitarism, and the risk of hypopituitarism is higher in women and patients diagnosed at a younger age, concluded researchers.

Using a predefined protocol, they selected eligible studies that evaluated patients with hypopituitarism and reported mortality estimates.

Reviewers, independently and in duplicate, extracted data and assessed the risk of bias.

Results:

A total of 12 studies (published 1996 to 2015) that reported on 23515 patients were included in this review.

Compared to the general population, hypopituitarism was associated with an overall excess mortality (weighted SMR of 1.52; 95% CI: 1.14- 2.04), P=0.000.

The following were independent risk factors for increased mortality: younger age at diagnosis, female gender, diagnosis of craniopharyngioma, radiation therapy, transcranial surgery, DI, and hypogonadism.

Summary: In Cushing’s disease (CD), pituitary corticotroph adenomas secrete excessive adrenocorticotropic hormone (ACTH), resulting in hypercortisolism. Often, the genetic pathogenesis of CD remains unknown, but recent studies have shown that the ubiquitin-specific protease 8 gene (USP8) is frequently mutated in CD. This gene codes for a protein deubiquitinase that inhibits the lysosomal degradation of the epidermal growth factor receptor. Researchers determined that pediatric patients with USP8 mutations were predominantly female and presented with higher ACTH levels than control patients.

Methods:

To further study the prevalence of mutations in USP8, researchers sequenced the complete USP8-coding and surrounding intronic regions in 97 patients with diagnosed CD by Sanger sequencing of germline DNA (n=97) and tumor DNA (n=50).

They analuzed biochemical and clinical characteristics in all the patients with predicted (by in silico analysis) damaging USP8 mutations and it was compared to patients without the mutation (control).

Results:

Overall researchers identified 18 (18.5%) patients with corticotroph adenomas who had USP8mutations, 13 with germline mutation, 2 with a germline and a new somatic mutation, and 5 with somatic mutation only.

All the somatic mutations that were not present at the germline level were mutations in the previously described hotspot.

Female-to-male ratio in the patients with USP8 mutations was 3.5:1 compared to the control ratio of 1:1 (P=0.05).

The mean age was 13 years old (range 6-18) and 72% (13/18) were whites.

Three of the mutant tumors were macroadenomas (≥ 1 cm) and 15 were microadenomas (< 1 cm).

In cases, mean basal plasma ACTH was 53.2±28.5 pg/mL and 39.6±19.1 pg/mL in the control group (P=0.02).

Researchers did not note any statistically significant differences in cortisol levels between the groups.

Summary: Neuropsychiatric symptoms including impairment of memory, attention, and executive function are important features of Cushing’s syndrome (CS). Notably, patients with CS in remission commonly demonstrate residual cognitive dysfunction, which has been suggested to be linked to incomplete recovery of neuronal function. Researchers sought to assess whether functional brain responses are altered during cognitive testing in patients with CS in remission. During episodic memory, women with CS in long-term remission have reduced functional brain responses in the prefrontal cortex and in the hippocampus.

Methods:

Included in this study were 19 women previously treated for CS (14 Cushing’s disease and 5 cortisol producing adrenal adenomas) and 19 controls, matched for age, gender, and education.

The primary regions of interest were the prefrontal cortex and the hippocampus.

A voxel wise comparison of functional brain responses in patients and controls was performed, and an uncorrected P < 0.001 was considered significant.

Results:

During memory encoding, patients displayed lower functional brain responses in the left and right prefrontal gyrus (Brodmann areas [BA] 44, 45, and 46) as well as the right inferior occipital gyrus (BA 18) compared to controls (P < 0.001 for all).